ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828103458
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199009
ClinVar RCV Id:
RCV000515384
RCV000435004
RCV002317064
RCV001252358
RCV001706153
RCV003955098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Ile278Val
CA247958
NM_001363695.2:c.832A>G